Epidemiology, Diagnosis and Genetics of Retinoblastoma: ICMR Consensus Guidelines.
Diagnosis
Epidemiology
Genetics
Pathology
Retinoblastoma
Journal
Indian journal of pediatrics
ISSN: 0973-7693
Titre abrégé: Indian J Pediatr
Pays: India
ID NLM: 0417442
Informations de publication
Date de publication:
16 Mar 2024
16 Mar 2024
Historique:
received:
23
01
2024
accepted:
19
02
2024
medline:
16
3
2024
pubmed:
16
3
2024
entrez:
16
3
2024
Statut:
aheadofprint
Résumé
Retinoblastoma (RB) is the most common intraocular tumor in childhood. It is mainly caused by mutations in both alleles of the RB1 tumor suppressor gene that is found on chromosome 13 and regulates the cell cycle. Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. The survival rate of RB has improved to more than 90% in the developed world. Leukocoria and proptosis are the most common presenting features of RB in Asian Indian populations. Most cases of RB are diagnosed by fundus examination followed by ultrasound. The International Classification of Retinoblastoma is the most used scheme for the staging and classification of intraocular RB in India. Prenatal testing and preimplantation genetic testing for RB may be beneficial in high-risk families. Histopathologic risk factors such as massive choroidal invasion and post-laminar optic nerve help in predicting the occurrence of metastasis in children with RB, while presence of microscopic residual disease requires aggressive adjuvant treatment in eyes enucleated for group E RB. The review provides a consensus document on diagnosis and genetics of RB in India.
Identifiants
pubmed: 38492167
doi: 10.1007/s12098-024-05085-2
pii: 10.1007/s12098-024-05085-2
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.
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